chr5:80677451:G>A Detail (hg38) (MSH3)

Information

Genome

Assembly Position
hg19 chr5:79,973,270-79,973,270 View the variant detail on this assembly version.
hg38 chr5:80,677,451-80,677,451

HGVS

Type Transcript Protein
RefSeq NM_002439.4:c.1174-1476G>A
Ensemble ENST00000265081.7:c.1174-1476G>A
ENST00000658259.1:c.1006-1476G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600887 OMIM
HGNC 7326 HGNC
Ensembl ENSG00000113318 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv335639918 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.015 Malignant neoplasm of ovary When the analyses were restricted to serous type ovarian cancer, two SNPs showed... BeFree 18723338 Detail
0.003 Malignant neoplasm of ovary When the analyses were restricted to serous type ovarian cancer, two SNPs showed... BeFree 18723338 Detail
0.002 ovarian carcinoma When the analyses were restricted to serous type ovarian cancer, two SNPs showed... BeFree 18723338 Detail
0.010 ovarian carcinoma When the analyses were restricted to serous type ovarian cancer, two SNPs showed... BeFree 18723338 Detail
Annotation

Annotations

DescrptionSourceLinks
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... DisGeNET Detail
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... DisGeNET Detail
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... DisGeNET Detail
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6151662 dbSNP
Genome
hg38
Position
chr5:80,677,451-80,677,451
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser